TH - tyrosine hydroxylase Gene
Also Known as TYH; DYT14; DYT5b
Species: Homo sapiens
About TH
This gene has 11 transcripts (splice variants), 188 orthologues, 3 paralogues and is associated with 3 phenotypes. Restricted expression toward adrenal (RPKM 42.8).
Summary
The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
TH Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000360.4 | NP_000351.2 | tyrosine 3-monooxygenase isoform b |
| NM_199292.3 | NP_954986.2 | tyrosine 3-monooxygenase isoform a |
| NM_199293.3 | NP_954987.2 | tyrosine 3-monooxygenase isoform c |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
19703902 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11943812 | GOA |
| enables tyrosine 3-monooxygenase activity |
IDA
IDA: Inferred from direct assay
|
1680128 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in dopamine biosynthetic process |
IDA
IDA: Inferred from direct assay
|
12457228 | GOA |
| involved in epinephrine biosynthetic process |
IDA
IDA: Inferred from direct assay
|
12457228 | GOA |
| involved in norepinephrine biosynthetic process |
IDA
IDA: Inferred from direct assay
|
12457228 | GOA |
| involved in response to ethanol |
IDA
IDA: Inferred from direct assay
|
18343820 | GOA |
| involved in response to hypoxia |
IDA
IDA: Inferred from direct assay
|
17520326 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10907721 | GOA |
| located in cytoplasmic side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
12457228 | GOA |
| located in cytoplasmic vesicle |
IDA
IDA: Inferred from direct assay
|
12457228 | GOA |
| located in melanosome membrane |
IDA
IDA: Inferred from direct assay
|
12631248 | GOA |
| located in neuron projection |
IDA
IDA: Inferred from direct assay
|
17135716 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
21392500 | GOA |
| located in smooth endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
12457228 | GOA |
TH Protein Structure
TOH_N: Tyrosine hydroxylase N terminal (2 - 26)
TOH_N: Tyrosine hydroxylase N terminal (37 - 61)
TOH_N: Tyrosine hydroxylase N terminal (62 - 80)
Biopterin_H: Biopterin-dependent aromatic amino acid hydroxylase (195 - 525)
- 0
- 100
- 200
- 300
- 400
- 500
- 528 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tyrosine 3-monooxygenase |
|
Recombinant TH Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P73564 | Tyrosine Hydroxylase Protein, Human (sf9, His) | P07101-3 (P2-G497) | ≥ 90%, as determined by reducing SDS-PAGE. |
TH Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80362 | Tyrosine Hydroxylase Antibody (YA023) | WB, IHC-P, ICC/IF, FC, IF-Tissue | Human, Mouse, Rat |
| HY-P83980 | Tyrosine Hydroxylase Antibody (YA3677) | WB, IHC-P, FC, ELISA | Human, Rat |
| HY-P83980A | Tyrosine Hydroxylase Antibody (YA3677)(PBS only) | WB, IHC-P, FC, ELISA | Human, Rat |
| HY-P85701 | Tyrosine Hydroxylase Antibody (YA5393) | WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P86075 | Tyrosine Hydroxylase Antibody (YA5767) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Segawa Syndrome, Autosomal Recessive |
|
|
| Dystonia |
|
|
| Dystonia, Dopa-Responsive |
|
|
| Placental Insufficiency |
|
|
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
|
| Phenylketonuria |
|
|
| Mood Disorder |
|
|
| Parkinsonism |
|
|
| Pheochromocytoma |
|
|
| Sudden Infant Death Syndrome |
|
|
| Multiple System Atrophy 1 |
|
|
| Dementia, Lewy Body |
|
|
| Paraganglioma |
|
|
| Stiff-Person Syndrome |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Ganglioglioma |
|
|
| Gilles De La Tourette Syndrome |
|
|
| Bipolar Disorder |
|
|
| Wolfram Syndrome |
|
|
| Rett Syndrome |
|
|
| Von Hippel-Lindau Syndrome |
|
|
| Movement Disease |
|
|
| Constipation |
|
|
| Multiple Endocrine Neoplasia |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Ganglioneuroblastoma |
|
|
| Borderline Personality Disorder |
|
|
| Personality Disorder |
|
|
| Toxic Encephalopathy |
|
|
| Dopamine Beta-Hydroxylase Deficiency |
|
|
| Gastroparesis |
|
|
| Central Hypoventilation Syndrome, Congenital, 1 |
|
|
| Ganglioneuroma |
|
|
| Amphetamine Abuse |
|
|
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
|
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
|
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
|
| Adjustment Disorder |
|
|
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
|
| Hyperphenylalaninemia |
|
|
| Schizophrenia |
|
|
| Dementia |
|
|
| Rhabdomyosarcoma 2 |
|
|
| Major Depressive Disorder |
|
|
| Peripheral Nervous System Benign Neoplasm |
|
|
| Autonomic Nervous System Benign Neoplasm |
|
|
| Alcohol Dependence |
|
|
| Striatonigral Degeneration |
|
|
| Oculogyric Crisis |
|
|
| Postencephalitic Parkinson Disease |
|
|
| Neonatal Hypoxic And Ischemic Brain Injury |
|
|
| Psychotic Disorder |
|
|
| Anxiety |
|
|
| Diabetic Autonomic Neuropathy |
|
|
| Morphine Dependence |
|
|
| Neuroblastoma |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Impulse Control Disorder |
|
|
| Huntington Disease |
|
|
| Congenital Central Hypoventilation Syndrome |
|
|
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
|
| Hypertension, Essential |
|
|
| Developmental And Epileptic Encephalopathy 47 |
|
|
| Sleep Disorder |
|
|
| Dissociated Nystagmus |
|
|
| Autonomic Nervous System Disease |
|
|
| Hearing Loss, Noise-Induced |
|
|
| Esophageal Atresia |
|
|
| Parkinson Disease 4, Autosomal Dominant |
|
|
| Autonomic Nervous System Neoplasm |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Peripheral Nervous System Neoplasm |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Disease Of Mental Health |
|
|
| Choreatic Disease |
|
|
| Specific Developmental Disorder |
|
|
| Peripheral Nervous System Disease |
|
|
| Stroke, Ischemic |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Nervous System Disease |
|
|
| Hirschsprung Disease 1 |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | TH | VGNC | VGNC:66147 |
| Rattus norvegicus | TH | RGD | RGD:3853 |
| Bos taurus | TH | VGNC | VGNC:35816 |
| Canis familiaris | TH | VGNC | VGNC:47322 |
| Mus musculus | TH | MGD | MGI:98735 |
| Macaca mulatta | TH | VGNC | VGNC:78342 |
| Others | TH | NCBI |